A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I

BACKGROUND: To analyze the clinical phenotypes and genetic variants of a Chinese family with Waardenburg syndrome (WS) and to explore the possible molecular pathogenesis of WS. METHODS: The clinical data from a patient and his family were collected. The genomic DNA of the patient and his family was...

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Detalles Bibliográficos
Autores principales: Ma, Jing, Lin, Ken, Jiang, Hong‐chao, Yang, Yanli, Zhang, Yu, Yang, Guilian, Sun, Hao, Ming, Cheng, Bi, Xianyun, Zhang, Tiesong, Ruan, Biao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625151/
https://www.ncbi.nlm.nih.gov/pubmed/31190477
http://dx.doi.org/10.1002/mgg3.798

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